Phenotype #0000236665
| Individual ID |
00311418 |
| Associated disease |
? |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
MRD50 |
| Phenotype details |
see paper; ..., (growth parameters); no feeding difficulties; global developmental delay (HP:0001263); global developmental delay (HP:0001263); aggressive behavior (HP:0000718), traits of Noonan syndrome, possible autism spectrum disorder; global developmental delay (HP:0001263); no seizures; MRI brain normal; normal muscle tone; unilateral cryptorchidia (HP:0012741), ptosis (HP:0000508) left eye, mild hypertelorism (HP:0000316), flat philtrum (HP:0000319), low set ears (HP:0000369); no cardiavacular anomalies; mild pectus carinatum upper side (HP:0000917), excavatum below (HP:0000915); |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
02y04m (2 years, 4 months) |
| Age/Diagnosis |
- |
| Age/Onset |
8.5m |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-09-24 19:42:42 +02:00 (CEST) |
| Date last edited |
2025-03-06 17:36:37 +01:00 (CET) |
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